Incidental Mutation 'R3935:Gpr85'
| ID |
307127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr85
|
| Ensembl Gene |
ENSMUSG00000048216 |
| Gene Name |
G protein-coupled receptor 85 |
| Synonyms |
2900026B03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R3935 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
13834457-13839941 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13836044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 287
(F287L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111155
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060442]
[ENSMUST00000115491]
[ENSMUST00000115492]
|
| AlphaFold |
P60894 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060442
AA Change: F287L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000053837
Gene: ENSMUSG00000048216
AA Change: F287L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
37 |
338 |
4.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115491
AA Change: F287L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000111154
Gene: ENSMUSG00000048216
AA Change: F287L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
37 |
338 |
4.1e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115492
AA Change: F287L
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000111155
Gene: ENSMUSG00000048216
AA Change: F287L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
37 |
338 |
1.6e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127072
|
| Meta Mutation Damage Score |
0.1429 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the G protein-coupled receptor (GPCR) family, such as GPR85, have a similar structure characterized by 7 transmembrane domains. Activation of GPCRs by extracellular stimuli, such as neurotransmitters, hormones, or light, induces an intracellular signaling cascade mediated by heterotrimeric GTP-binding proteins, or G proteins (Matsumoto et al., 2000 [PubMed 10833454]).[supplied by OMIM, Aug 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display a significant increase in brain weight and enhanced contextual memory in a fear-conditioning task but no additional behavioral abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arx |
T |
A |
X: 92,340,975 (GRCm39) |
L554Q |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,743,105 (GRCm39) |
V1622A |
possibly damaging |
Het |
| Bbof1 |
A |
G |
12: 84,457,984 (GRCm39) |
D83G |
probably damaging |
Het |
| Ccdc47 |
T |
C |
11: 106,092,823 (GRCm39) |
|
probably benign |
Het |
| Clstn3 |
G |
A |
6: 124,434,901 (GRCm39) |
T338I |
probably damaging |
Het |
| Dsc1 |
T |
A |
18: 20,230,298 (GRCm39) |
T336S |
probably benign |
Het |
| Elk3 |
A |
G |
10: 93,101,035 (GRCm39) |
S239P |
possibly damaging |
Het |
| Fbll1 |
T |
A |
11: 35,688,475 (GRCm39) |
I263F |
probably damaging |
Het |
| Fbxw8 |
T |
G |
5: 118,233,783 (GRCm39) |
I283L |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,774,824 (GRCm39) |
F133L |
probably benign |
Het |
| Gpr176 |
A |
G |
2: 118,109,777 (GRCm39) |
V494A |
probably benign |
Het |
| Hoxd11 |
A |
G |
2: 74,514,376 (GRCm39) |
N302S |
probably benign |
Het |
| Iqgap1 |
T |
G |
7: 80,393,585 (GRCm39) |
Y664S |
possibly damaging |
Het |
| Kansl1 |
A |
T |
11: 104,234,369 (GRCm39) |
D712E |
possibly damaging |
Het |
| Kif1b |
T |
C |
4: 149,321,617 (GRCm39) |
N1101D |
probably benign |
Het |
| Kyat1 |
A |
G |
2: 30,075,761 (GRCm39) |
L376P |
probably damaging |
Het |
| Lztr1 |
T |
A |
16: 17,340,059 (GRCm39) |
Y93* |
probably null |
Het |
| Nrip1 |
A |
G |
16: 76,091,323 (GRCm39) |
M78T |
possibly damaging |
Het |
| P4hb |
A |
C |
11: 120,453,235 (GRCm39) |
H440Q |
probably benign |
Het |
| Pbsn |
T |
C |
X: 76,891,702 (GRCm39) |
T32A |
probably damaging |
Het |
| Prg4 |
A |
G |
1: 150,333,908 (GRCm39) |
I152T |
possibly damaging |
Het |
| Prss36 |
A |
G |
7: 127,533,780 (GRCm39) |
L8P |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 17,177,150 (GRCm39) |
V2930A |
probably damaging |
Het |
| Ptchd4 |
G |
C |
17: 42,814,380 (GRCm39) |
L760F |
possibly damaging |
Het |
| Rbms3 |
A |
G |
9: 116,465,459 (GRCm39) |
L163P |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,158,120 (GRCm39) |
I418V |
probably damaging |
Het |
| Sf3a1 |
T |
A |
11: 4,130,024 (GRCm39) |
|
probably null |
Het |
| Sirpb1b |
T |
A |
3: 15,613,843 (GRCm39) |
T80S |
probably benign |
Het |
| Slc16a7 |
C |
A |
10: 125,066,712 (GRCm39) |
R309L |
probably damaging |
Het |
| Slc35f1 |
C |
T |
10: 52,984,314 (GRCm39) |
T358I |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,180,570 (GRCm39) |
E411G |
probably benign |
Het |
| Ssu72 |
C |
T |
4: 155,789,876 (GRCm39) |
S13L |
probably benign |
Het |
| Sult2b1 |
C |
T |
7: 45,391,640 (GRCm39) |
V49M |
probably benign |
Het |
| Tmem80 |
T |
C |
7: 140,913,938 (GRCm39) |
Y30H |
probably damaging |
Het |
|
| Other mutations in Gpr85 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02414:Gpr85
|
APN |
6 |
13,836,909 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0784:Gpr85
|
UTSW |
6 |
13,836,748 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1356:Gpr85
|
UTSW |
6 |
13,836,146 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2343:Gpr85
|
UTSW |
6 |
13,836,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3934:Gpr85
|
UTSW |
6 |
13,836,044 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3936:Gpr85
|
UTSW |
6 |
13,836,044 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4925:Gpr85
|
UTSW |
6 |
13,835,977 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5313:Gpr85
|
UTSW |
6 |
13,836,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5586:Gpr85
|
UTSW |
6 |
13,836,000 (GRCm39) |
nonsense |
probably null |
|
|
R7043:Gpr85
|
UTSW |
6 |
13,835,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8458:Gpr85
|
UTSW |
6 |
13,836,848 (GRCm39) |
missense |
probably benign |
|
|
R8468:Gpr85
|
UTSW |
6 |
13,836,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8503:Gpr85
|
UTSW |
6 |
13,836,829 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9519:Gpr85
|
UTSW |
6 |
13,836,998 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGGATTTTCTGCAGTAAAGAAGG -3'
(R):5'- AACTGGACCTTTCATGGCCC -3'
Sequencing Primer
(F):5'- TCTGCAGTAAAGAAGGGTTGTGC -3'
(R):5'- CTTTCATGGCCCTGGAGCTAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation